E25Q (p.Glu25Gln) variant of RHO (Rhodopsin)
E25Q (p.Glu25Gln) in RHO (Rhodopsin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
E25Q (p.Glu25Gln) variant details
- p.Glu25Gln
- rs774425557
- NCI-TCGA Cosmic COSV5621
- NCI-TCGA Cosmic COSV9996
- ExAC rs774425557
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.45
- MetaLR 0.20
- MetaSVM -0.39
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.69
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available